The spectrum of phenotypes caused by variants in the CFH gene

被引：75

作者：

Boon, Camiel J. F. ^{[1
]}

van de Kar, Nicole C. ^{[2
]}

Klevering, B. Jeroen ^{[1
]}

Keunen, Jan E. E. ^{[1
]}

Cremers, Frans P. M. ^{[3
,4
]}

Klaver, Caroline C. W. ^{[5
,6
]}

Hoyng, Carel B. ^{[1
]}

Daha, Mohamed R. ^{[7
]}

den Hollandera, Anneke I. ^{[1
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Ophthalmol, NL-6500 HB Nijmegen, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Paediat Nephrol, NL-6500 HB Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Nijmegen Ctr Mol Life Sci, NL-6500 HB Nijmegen, Netherlands

[5] Erasmus MC, Dept Ophthalmol, Rotterdam, Netherlands

[6] Erasmus MC, Dept Epidemiol & Biostat, Rotterdam, Netherlands

[7] Leiden Univ, Med Ctr, Dept Nephrol, Leiden, Netherlands

来源：

MOLECULAR IMMUNOLOGY | 2009年 / 46卷 / 8-9期

关键词：

CFH; Complement; Membranoproliferative glomerulonephritis; Atypical hemolytic uremic syndrome; Age-related macular degeneration; Basal laminar drusen; Drusen; Genotype-phenotype correlation; COMPLEMENT-FACTOR-H; HEMOLYTIC-UREMIC-SYNDROME; C-REACTIVE-PROTEIN; GLOMERULONEPHRITIS TYPE-II; DENSE-DEPOSIT DISEASE; TRANSLATIONAL MINIREVIEW SERIES; RETINAL-PIGMENT EPITHELIUM; MEMBRANE COFACTOR PROTEIN; AGE-RELATED MACULOPATHY; SHORT CONSENSUS REPEAT;

D O I：

10.1016/j.molimm.2009.02.013

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Complement factor H (CFH) is a complement inhibitor, which is present as a soluble protein and attached to cell surfaces throughout the human body. As such, CFH is a key player in complement homeostasis, inhibiting excessive activation of the complement cascade, with an emphasis on the alternative pathway. The significance of CFH is demonstrated by the broad range of phenotypes associated with specific CFH gene variants. This phenotypic spectrum includes renal phenotypes, such as membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome, as well as ocular phenotypes, such as basal laminar drusen and age-related macular degeneration. In addition, several overlapping phenotypes have been described in association with CFH gene variants. The phenotypic outcome of these CFH variants depends on their differential impact on plasma- and surface-bound CFH function. Consequently, distinct genotype-phenotype correlations may be observed. (C) 2009 Elsevier Ltd. All rights reserved.

引用

页码：1573 / 1594

页数：22

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